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The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymp... See more...
Aliases for ATG5 Gene
Aliases for ATG5 Gene
External Ids for ATG5 Gene
- HGNC: 589
- NCBI Entrez Gene: 9474
- Ensembl: ENSG00000057663
- OMIM®: 604261
- UniProtKB/Swiss-Prot: Q9H1Y0
Previous HGNC Symbols for ATG5 Gene
- APG5L
Previous GeneCards Identifiers for ATG5 Gene
- GC06M106740
- GC06M106632
- GC06M104079
- GC06M106184
Summaries for ATG5 Gene
-
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
GeneCards Summary for ATG5 Gene
ATG5 (Autophagy Related 5) is a Protein Coding gene. Diseases associated with ATG5 include Spinocerebellar Ataxia, Autosomal Recessive 25 and Stomatitis. Among its related pathways are Macroautophagy and Nanoparticle triggered autophagic cell death. Gene Ontology (GO) annotations related to this gene include Atg8 ligase activity.
UniProtKB/Swiss-Prot Summary for ATG5 Gene
-
Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
-
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
-
(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
Additional gene information for ATG5 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG5 Gene
Genomics for ATG5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATG5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATG5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATG5
- Top Transcription factor binding sites by QIAGEN in the ATG5 gene promoter:
-
- FOXJ2
- FOXJ2 (long isoform)
- Hlf
- HNF-3beta
- p53
- POU3F2
- RORalpha2
- SRF
- SRF (504 AA)
Genomic Locations for ATG5 Gene
Latest Assembly
- chr6:106,045,423-106,325,791
- (GRCh38/hg38)
- Size:
- 280,369 bases
- Orientation:
- Minus strand
Previous Assembly
- chr6:106,632,351-106,773,635
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 141,285 bases
- Orientation:
- Minus strand
Genomic View for ATG5 Gene
Genes around ATG5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q21 by HGNC
- 6q21 by Entrez Gene
- 6q21 by Ensembl
ATG5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATG5 Gene
Proteins for ATG5 Gene
-
Protein details for ATG5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H1Y0-ATG5_HUMAN
- Recommended name:
- Autophagy protein 5
- Protein Accession:
- Q9H1Y0
- O60875
- Q5JVR2
- Q68DI4
- Q9H2B8
- Q9HCZ7
Protein attributes for ATG5 Gene
- Size:
- 275 amino acids
- Molecular mass:
- 32447 Da
- Quaternary structure:
-
- Forms a conjugate with ATG12 (PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546). The ATG5-ATG12 conjugate forms a complex with several units of ATG16L1. Forms an 800-kDa complex composed of ATG12-ATG5 and ATG16L2 (By similarity). Interacts with TECPR1; the interaction is direct and does not take place when ATG16L1 is associated with the ATG5-ATG12 conjugate (PubMed:21575909, PubMed:22342342). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate form. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 (PubMed:12207896, PubMed:11825910). Interacts with ATG7 and ATG10 (By similarity). Interacts with FADD (PubMed:15778222). Interacts with Bassoon/BSN; this interaction is important for the regulation of presynaptic autophagy (By similarity). Interacts with ATG16L2 (By similarity).
- (Microbial infection) Interacts transiently interacts with hepatitis C virus (HCV) protein NS5B during HCV infection.
Three dimensional structures from OCA and Proteopedia for ATG5 Gene
Protein Expression for ATG5 Gene
Post-translational modifications for ATG5 Gene
- Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
- Acetylated by EP300.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ATG5 Gene
Antibodies for research
- LifeSpan BioSciences APG5 / ATG5 Antibody (LS-B1843) and APG5 / ATG5 Antibody (LS-B4678)
- G Biosciences Immunotag™ APG5L/ATG5 Antibody and Immunotag™ ATG5 Antibody
- NSJ Bioreagents ATG5 Antibody (Protein Microarray-Validated Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for ATG5
- Novus Biologicals Antibodies for ATG5
-
Abcam antibodies for ATG5
- Invitrogen Antibodies for ATG5 (AFLGC-Atg5)
- antibodies-online: Show 117 available ATG5 Antibodies ranked by validation data
- Compare Top ATG5 Antibodies
-
Recommended
- 281 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 105 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 79 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for ATG5
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATG5
Protein products for research
- G Biosciences Human ATG5/Autophagy protein 5/APG5L/ASP, Liquid
-
OriGene Purified Proteins for ATG5
- Search Origene for MassSpec and Protein Over-expression Lysates for ATG5
- Origene Custom Protein Services for ATG5
- ProSpec Recombinant Proteins for ATG5
-
ProSci Proteins for ATG5
-
Abcam proteins for ATG5
Assay products for research
No data available for DME Specific Peptides for ATG5 Gene
Domains & Families for ATG5 Gene
Gene Families for ATG5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for ATG5 Gene
- InterPro:
- Blocks:
-
- Autophagy protein Apg5
Suggested Antigen Peptide Sequences for ATG5 Gene
- GenScript: Design optimal peptide antigens:
-
- ATG5 autophagy related 5-like (A9UGY9_HUMAN)
- Apoptosis-specific protein (ATG5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H1Y0- Family:
-
- Belongs to the ATG5 family.
Function for ATG5 Gene
Molecular function for ATG5 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
- UniProtKB/Swiss-Prot Function:
- May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
- UniProtKB/Swiss-Prot Induction:
- By apoptotic stimuli.
Phenotypes From GWAS Catalog for ATG5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9852036 |
Phenotypes for ATG5 Gene
- MGI mutant phenotypes for ATG5:
-
inferred from 4 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for ATG5:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATG5 - Starting at $85 >
- * ATG5 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG5
miRNA for ATG5 Gene
- miRTarBase miRNAs that target ATG5
-
- mmu-miR-425-5p (MIRT008701)
- mmu-miR-149-5p (MIRT014580)
- hsa-miR-181a-5p (MIRT053197)
- hsa-miR-30d-5p (MIRT438870)
- mmu-miR-335-3p (MIRT594541)
- mmu-miR-3105-5p (MIRT594542)
- hsa-miR-19b-3p (MIRT728271)
- hsa-miR-19a-3p (MIRT728272)
- hsa-miR-9-5p (MIRT731146)
- hsa-miR-299-5p (MIRT731906)
- mmu-miR-299a-5p (MIRT731907)
- hsa-miR-224-3p (MIRT732275)
- hsa-miR-34a-5p (MIRT732696)
- hsa-miR-30e-5p (MIRT733176)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG5
- Browse OriGene Inhibitory RNA Products For ATG5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5
Clone products for research
- Applied Biological Materials (abm): Clones for ATG5 - Starting at $45 >
- * ATG5 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATG5
- Addgene plasmids for ATG5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG5
Cell Lines for research
-
Horizon Cell Lines for ATG5
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATG5 Gene
Localization for ATG5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATG5 Gene
- Cytoplasm. Preautophagosomal structure membrane. Peripheral membrane protein. Note=Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| lysosome | 4 |
| plasma membrane | 3 |
| extracellular | 3 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| endosome | 3 |
| peroxisome | 2 |
| golgi apparatus | 2 |
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,ISS | -- |
| GO:0005776 | autophagosome | IDA | 15292400 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005930 | axoneme | IEA,ISS | -- |
| GO:0016020 | membrane | IEA,IDA | 23093945 |
Pathways & Interactions for ATG5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
| 2 | Macroautophagy |
.34
|
|
| 3 | Longevity regulating pathway | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Mitophagy |
1.00
|
|
Pathways by source for ATG5 Gene
1 Sino Biological pathway for ATG5 Gene
3 BioSystems pathways for ATG5 Gene
8 Reactome pathways for ATG5 Gene
9 KEGG pathways for ATG5 Gene
1 GeneTex pathway for ATG5 Gene
Interacting Proteins for ATG5 Gene
Selected Interacting proteins:
Q9H1Y0-ATG5_HUMAN
ENSP00000358072
for ATG5 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATG5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IEA,ISS | -- |
| GO:0000422 | autophagy of mitochondrion | IEA,IBA | 21873635 |
| GO:0001974 | blood vessel remodeling | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002718 | regulation of cytokine production involved in immune response | IEA | -- |
No data available for SIGNOR curated interactions for ATG5 Gene
Drugs & Compounds for ATG5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adalimumab | Approved, Experimental | Pharma | 623 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- G Biosciences Human ATG5/Autophagy protein 5/APG5L/ASP, Liquid
Transcripts for ATG5 Gene
mRNA/cDNA for ATG5 Gene
- 5 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343245 3092 nts (view in UCSC)
- ENST00000360666 2712 nts (view in UCSC)
- ENST00000369070 3088 nts (view in UCSC)
- ENST00000369076 3185 nts (view in UCSC)
- ENST00000475645 2659 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATG5 - Starting at $85 >
- * ATG5 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG5
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG5
- Browse OriGene Inhibitory RNA Products For ATG5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5
Clone products for research
- Applied Biological Materials (abm): Clones for ATG5 - Starting at $45 >
- * ATG5 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATG5
- Addgene plasmids for ATG5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG5
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||
| SP5: | - | - | - | - |
Relevant External Links for ATG5 Gene
- GeneLoc Exon Structure for
- ATG5
Expression for ATG5 Gene
This gene is overexpressed in Stomach (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG5 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG5
SOURCE GeneReport for Unigene cluster for ATG5 Gene:
Hs.486063mRNA Expression by UniProt/SwissProt for ATG5 Gene:
Q9H1Y0-ATG5_HUMAN
Tissue specificity:
Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.
Evidence on tissue expression from TISSUES for ATG5 Gene
- Nervous system(4.7)
- Liver(3)
- Kidney(2.9)
- Heart(2.9)
- Muscle(2.8)
- Lung(2.8)
- Intestine(2.8)
- Blood(2.8)
- Spleen(2.8)
- Skin(2.7)
- Lymph node(2.7)
- Bone marrow(2.5)
- Pancreas(2.4)
- Stomach(2.3)
- Thyroid gland(2.3)
- Eye(2.3)
- Adrenal gland(2.3)
Primer products for research
-
OriGene qPCR primer pairs for ATG5
-
OriGene qPCR primer pairs and template standards for ATG5
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG5 Gene
Orthologs for ATG5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATG5 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATG5 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATG5 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATG5 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atg5 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATG5 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATG5 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATG5 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atg5 29 |
|
||
| Str.17181 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23730 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atg5 29 30 |
|
OneToOne | |
| Dr.12686 29 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010939 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Atg5 29 30 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | atg-5 29 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATG5 30 32 32 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | APG5 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0117800 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7077 30 |
|
OneToOne |
- Species where no ortholog for ATG5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ATG5 Gene
- ENSEMBL:
- Gene Tree for ATG5 (if available)
- TreeFam:
- Gene Tree for ATG5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATG5: view image
- Alliance of Genome Resources:
- Additional Orthologs for ATG5
Paralogs for ATG5 Gene
(1) SIMAP similar genes for ATG5 Gene using alignment to 4 proteins:
- ATG5_HUMAN
- A9UGY9_HUMAN
- L7UMD8_HUMAN
- L7UQJ2_HUMAN
No data available for Paralogs for ATG5 Gene
Variants for ATG5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG5 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113169226 | Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] |
p.Glu122Asp |
|||
| rs1131692265 | Pathogenic: Spinocerebellar ataxia, autosomal recessive 25 | 106,279,773(-) |
T/A NM_004849.4(ATG5):c.366A>T (p.Glu122Asp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
| rs114109860 | Benign: not provided | 106,316,143(-) |
T/C NM_004849.4(ATG5):c.66A>G (p.Leu22=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
| rs117127057 | Benign: not provided | 106,293,114(-) |
T/C NM_004849.4(ATG5):c.237-8A>G |
INTRON | |
| rs1333025395 | Uncertain Significance: not provided | 106,316,147(-) |
G/C NM_004849.4(ATG5):c.62C>G (p.Thr21Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv391n21 | CNV | gain | 19592680 |
| dgv6134n100 | CNV | gain | 25217958 |
| esv24511 | CNV | loss | 19812545 |
| esv2615044 | CNV | insertion | 19546169 |
| esv26469 | CNV | gain | 19812545 |
| esv2657202 | CNV | deletion | 23128226 |
| esv2677509 | CNV | deletion | 23128226 |
| esv3450548 | CNV | insertion | 20981092 |
| esv3610266 | CNV | gain | 21293372 |
| esv3610267 | CNV | gain | 21293372 |
| esv3610268 | CNV | gain | 21293372 |
| esv3610270 | CNV | loss | 21293372 |
| esv3610271 | CNV | loss | 21293372 |
| esv3610272 | CNV | gain | 21293372 |
| esv3610273 | CNV | loss | 21293372 |
| nsv1025231 | CNV | gain | 25217958 |
| nsv1161442 | CNV | duplication | 26073780 |
Residual Variation Intolerance Score:
42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATG5 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG5 Gene
Disorders for ATG5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia, autosomal recessive 25 |
|
|
| stomatitis |
|
|
| hepatitis c virus |
|
|
| cerebellar hypoplasia |
|
|
| vici syndrome |
|
|
Search ATG5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATG5_HUMAN- Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging. {ECO:0000269 PubMed:26812546}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ATG5
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ATG5 Gene
Publications for ATG5 Gene
- Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. (PMID: 15778222) Pyo JO … Jung YK (The Journal of biological chemistry 2005) 2 3 4 22
- Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. (PMID: 9563500) Hammond EM … Grand RJ (FEBS letters 1998) 2 3 4 22
- Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. (PMID: 26812546) Kim M … Burmeister M (eLife 2016) 3 4 72
- Regulation of autophagy by the p300 acetyltransferase. (PMID: 19124466) Lee IH … Finkel T (The Journal of biological chemistry 2009) 3 4 22
- Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang MR … Lee SH (The Journal of pathology 2009) 3 22 40
ExternalLinks
Products for ATG5 Gene
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Sources for ATG5 Gene
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